Related gene-specific medical variations for Gene (Select 80003) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3210395	NM_014801.4(PCNX2):c.3071C>A (p.Pro1024Gln)	LOC126806050, PCNX2 (P1024Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210394	NM_014801.4(PCNX2):c.1651G>A (p.Asp551Asn)	LOC126806051, PCNX2 (D551N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685899	GRCh37/hg19 1q42.2(chr1:233127416-233327597)x1	PCNX2	Copy number loss	not provided	GUncertain significance
Select item 2640089	NM_014801.4(PCNX2):c.1506C>T (p.Ser502=)	LOC126806051, PCNX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640088	NM_014801.4(PCNX2):c.1834+5G>A	LOC126806051, PCNX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2391990	NM_014801.4(PCNX2):c.1315G>C (p.Gly439Arg)	LOC126806051, PCNX2 (G439R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376421	NM_014801.4(PCNX2):c.1279T>C (p.Ser427Pro)	LOC126806051, PCNX2 (S427P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364685	NM_014801.4(PCNX2):c.1550C>T (p.Ser517Leu)	LOC126806051, PCNX2 (S517L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2361896	NM_014801.4(PCNX2):c.1795G>A (p.Gly599Ser)	LOC126806051, PCNX2 (G599S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277418	NM_014801.4(PCNX2):c.1163C>A (p.Thr388Lys)	LOC126806051, PCNX2 (T388K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254610	NM_014801.4(PCNX2):c.1477G>T (p.Val493Leu)	LOC126806051, PCNX2 (V493L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234607	NM_014801.4(PCNX2):c.1684G>C (p.Asp562His)	LOC126806051, PCNX2 (D562H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 979939	GRCh37/hg19 1q42.2(chr1:233385564-233449656)x1	PCNX2	Copy number loss	not provided	GUncertain significance
Select item 684958	GRCh37/hg19 1q42.2(chr1:233207644-233248208)x1	PCNX2	Copy number loss	not provided	GUncertain significance